Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP388071.RA_3YmOu5rwQgNe0gME8UWOvSGhhD6mPTIgI12XycaEpA#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 7977366 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[We describe here the identification of defined mutations in both alleles of the fibrillin gene (FBN1) in a compound-heterozygote Marfan syndrome (MFS) child who had a very severe form of MFS resulting in death from cardiac failure at the age of 4 mo.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.